Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase - Wikidata - awgldk - TriplyDB

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

http://www.wikidata.org/entity/Q28543984

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Mutations of the Calcium Channel Gene cacophony Suppress Seizures in Drosophila Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.USP9X regulates centrosome duplication and promotes breast carcinogenesis.Epilepsy and Autism.Clustering and negative feedback by endocytosis in planar cell polarity signaling is modulated by ubiquitinylation of prickle A roadmap for precision medicine in the epilepsies.De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations Usp9x-deficiency disrupts the morphological development of the postnatal hippocampal dentate gyrus.Spatiotemporal progression of ubiquitin-proteasome system inhibition after status epilepticus suggests protective adaptation against hippocampal injury.The X-linked deubiquitinase USP9X is an integral component of centrosome.Proteomic Analysis After Status Epilepticus Identifies UCHL1 as Protective Against Hippocampal Injury.Pharmacogenomics in epilepsy.USP9X deletion elevates the density of oligodendrocytes within the postnatal dentate gyrus.Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family.Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.USP9X controls translation efficiency via deubiquitination of eukaryotic translation initiation factor 4A1.Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.Prickle is phosphorylated by Nemo and targeted for degradation to maintain Prickle/Spiny-legs isoform balance during planar cell polarity establishment.

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Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

http://www.wikidata.org/entity/Q28543984

description

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Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

@ast

Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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type

label

Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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prefLabel

Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

@en

Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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JOURNAL.PGEN.1005022

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Seizures are regulated by ubiq ...... ked (USP9X), a de-ubiquitinase

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Alexander G Bassuk

http://www.w3.org/2001/XMLSchema#string

Allison J Cox

http://www.w3.org/2001/XMLSchema#string

Amy Schneider

http://www.w3.org/2001/XMLSchema#string

Gemma L Carvill

http://www.w3.org/2001/XMLSchema#string

Hatem El-Shanti

http://www.w3.org/2001/XMLSchema#string

Heather C Mefford

http://www.w3.org/2001/XMLSchema#string

Ingrid E Scheffer

http://www.w3.org/2001/XMLSchema#string

Jessica M Skeie

http://www.w3.org/2001/XMLSchema#string

Levi P Sowers

http://www.w3.org/2001/XMLSchema#string

Men Chee Tan

http://www.w3.org/2001/XMLSchema#string

P2860

REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

Regulation of planar cell polarity by Smurf ubiquitin ligases

Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders

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e1005022

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scholarly article

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1623827

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10.1371/JOURNAL.PGEN.1005022

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3

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11

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Lachlan A Jolly

Benjamin Darbro

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2015-03-01T00:00:00Z

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273466172

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25763846

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4357451

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